EFEMP1

EGF containing fibulin extracellular matrix protein 1

Ensembl:
ENSG00000115380
UniProt:
Q12805
OMIM:
601548
Synonyms:
DHRD, FBLN3, FBNL, MTLV, S1-5

Cilia effects upon perturbation of EFEMP1

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.23) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
abnormal cecum morphology; preweaning lethality; incomplete penetrance

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

Subcellular localization

mitochondria

Functional category

  • Motile cilium & axoneme

Function

Mutations in EFEMP1 cause autosomal dominant drusen (PMID: 38278208).